Mutataions in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

Circulation

Volumn 103, Issue 2, 2001, Pages 196-200

  Priori, Silvia G ^a,b   Napolitano, Carlo ^a   Tiso, Natascia ^c   Memmi, Mirella ^a   Vignati, Gabriele ^d   Bloise, Raffaella ^a   Sorrentino, Vincenzo ^e,f   Danieli, Gian Antonio ^c  

^a IRCCS   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d OSPEDALE NIGUARDA CA GRANDA   (Italy)

^e SAN RAFFAELE HOSPITAL   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

Author keywords

Arrhythmia; Genetics; Ryanodine receptor calcium release channel; Tachycardia

Indexed keywords

CATECHOLAMINE; DNA; RYANODINE RECEPTOR;

ADULT; ARRHYTHMOGENESIS; ARTICLE; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEART VENTRICLE TACHYCARDIA; HUMAN; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN DEATH; SYNCOPE; ADOLESCENT; CASE REPORT; GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BASE SEQUENCE; CATECHOLAMINES; CHILD; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACHYCARDIA, VENTRICULAR;

EID: 0035895322     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.103.2.196     Document Type: Article

References (23)

1. Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: Report of four cases
2. Catecholaminergic polymorphic ventricular tachycardia in children: A 7-year follow-up of 21 patients
3. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts
4. The human cardiac muscle ryanodine receptor-calcium release channel: Identification, primary structure, and topological analysis
5. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes
6. Molecular cloning of cDNA encoding the Ca2 + release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum
7. Identification of mutations in the cardiac Ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
8. Cardiac intracellular calcium release channels: Role in heart failure
9. Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
10. Low penetrance in the long-QT syndrome: Clinical impact
11. Calcium induced release of calcium from cardiac sarcoplasmic reticulum
12. Mechanisms underlying early and delayed afterdepolarizations induced by catecholamines
13. Delayed afterdepolarizations elicited in vivo by left stellate ganglion stimulation
14. Ryanodine receptor mutations in malignant hyperthermia and central core disease
15. The electrocardiogram in digitalis intoxication
16. Effects of tetrodotoxin, lidocaine, verapamil and AHR-2666 on oubain-induced delayed after depolarizations in canine Purkinje fibers
17. A mutation in the transmembrane luminal domain of the ryanodine receptor is associated with abnormal calcium release channel function and severe central core disease
18. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori Pedigree
19. Ryanodine receptors: How many, where and why?
20. 2+ release channels in evolution
21. PKA phosphorylation dissociates FKBP 12.6 from the calcium release channel (ryanodine receptor): Defective regulation in failing hearts
22. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43